The natural history of Niemann-Pick disease type C in the UK

Title

The natural history of Niemann-Pick disease type C in the UK

Creator

Imrie J; Dasgupta S; Besley GT; Harris C; Heptinstall L; Knight S; Vanier MT; Fensom AH; Ward C; Jacklin E; Whitehouse C; Wraith JE

Publisher

Journal Of Inherited Metabolic Disease

Date

2007

Subject

Child; Female; Humans; infant; Male; Great Britain; Adult; Middle Aged; adolescent; Preschool; infant; Models; Q3 Literature Search; Newborn; Genetic; Lipid Metabolism Disorders/diagnosis/metabolism; Lipids/chemistry; Niemann-Pick Disease; Type C/diagnosis/epidemiology

Description

Niemann-Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical phenotypes by biochemical mechanisms that have not yet been entirely clarified. The wide spectrum of clinical presentations of NPC includes hepatic and pulmonary disease as well as a range of neuropsychiatric disorders. Late-onset disease has been increasingly recognized as the biochemical diagnosis of NPC has been more widely applied in adult neurology clinics. The clinical presentation and follow-up of 94 patients with NPC is described, 58 of whom were still alive at the time this report was prepared. The age at diagnosis ranged from the prenatal period (with hydrops fetalis) up to 51 years. This review of NPC patients in the UK confirms the phenotypic variability of this inherited lipid storage disorder reported elsewhere. Although a non-neuronopathic variant has been described, most patients in this series who survived childhood inevitably suffered neurological and in some cases neuropsychiatric deterioration. While symptomatic treatment, such as anticholinergic and antiepileptic drugs, can alleviate some aspects of the disease, there is a clear need to develop a specific treatment for this progressively debilitating neurodegenerative disorder.
2007

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

51-59

Issue

1

Volume

30

Citation

Imrie J; Dasgupta S; Besley GT; Harris C; Heptinstall L; Knight S; Vanier MT; Fensom AH; Ward C; Jacklin E; Whitehouse C; Wraith JE, “The natural history of Niemann-Pick disease type C in the UK,” Pediatric Palliative Care Library, accessed October 22, 2021, https://pedpalascnetlibrary.omeka.net/items/show/14434.

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